Hi! My name is Victoria, but people call me Tori. I am 10 years old and I was born in Beaumont, TX but I now live in North Carolina. I have Type 1 Gaucher disease and my life has changed for the better. I first started having bone pain last year that I thought was growing pains because it lasted for a week or so then went away. But it would come back every few weeks. Then in January of 2007 I got really sick and had to go to the Emergency Room at my local hospital and that is when my journey took a turn…. I was running a fever and in a lot of pain and nothing my mom or anyone did made me feel any better. After being sick 3 days with a high fever, the doctors admitted me to the hospital to try to help me feel better. When I was put in the hospital I was so bored, but I did get to order ice cream in the middle of the night (though the ice cream was suppose to be chocolate, it tasted like peanut butter). They started an IV on me and that hurt a little bit. The day after I was admitted I was taken down to have an Ultrasound done on my stomach. During this ultrasound, they saw that my spleen was a lot bigger than it should have been. Your spleen is supposed to be protected by your ribs and if mine had been normal size, it would have been. My spleen was 8 times the normal size and was well down in my belly! The doctors told my mommy that something was going on and they were not sure what it was but I needed to go to another hospital about 2 hours away so they could find out what was wrong with me. I went to Brenner’s Children’s Hospital in Winston-Salem and met with Dr. Castellino. We started doing all kinds of tests on me; I had a lot of blood drawn, x-rays, MRI’s, bone scans, and 2 Bone Marrow Biopsies. The bone marrow biopsies were the worst because they had to put me to sleep and insert a needle into my back to get some bone marrow to test.

Tori – Age 10

Tori with her friend, Rick Allen, Def Leppard

I went to see Dr. Castellino from February until August and the last bone marrow test they did, they were able to diagnose me with Gaucher Disease. Now I had no idea what this was or what this meant but I knew how the last 7 months were, because my spleen was enlarged. I had to quit taking Horseback Riding lessons because they were afraid my spleen would rupture.

I could not play rough, could not play any contact sports, and I had to be really careful not to fall. My liver started getting bigger in May and this really scared me because I had no idea why I was different and why I was sick. When I got diagnosed I was then sent to another doctor to do some studies but I am now back with Dr. Castellino and she is going to take good care of me. My treatments take about 2 hours and it is done through an IV and I go every other week for these. This is something that I will have to do forever and at first it really scared me and made me sad but once I learned what Gaucher Disease was and what the treatments were I was not scared.

Before I started treatments I got to meet my hero Rick Allen, he is the drummer of Def Leppard. He is my hero because when he started drumming, he had both of his arms and after he had a car accident he lost his left arm. Instead of giving up he taught himself how to play again. He uses his left foot to play his left arm parts on a special drum set designed for him. He is very kind and he showed me that just because you’re different does not mean something is wrong with you. He also taught me that people may not understand what you’re going through, but no matter what they say about you, you’re special in your own way. When I met Rick Allen he gave me his drumstick that he used while drumming and he hugged me and let my mom take pictures of him and me.

Before I started having problems I was taking lessons in horseback riding and I was doing really good but then I started having problems and was not allowed to ride, so my family bought me two miniature horses for me to raise and show and cart race. I named them Sammy and Laura, after two famous Texans, Sam Houston and Laura Bush. I just found out that I can ride again but I cannot do any jumping on the horses.

Meeting Rick Allen has inspired me to learn how to play drums and I am now starting to learn how to play and I hope one day I am half as good as him. I am lucky that I have a lot of people around me that love me! My dad died when I was really young but I have my mommy, my step-dad, my little brother, my Grandma Holly, and my Paw-Paw Dennis. I also have a lot of friends and I have the support of my teachers and friends at school. While I was getting diagnosed I had to miss quite a bit of school but my teachers worked with me and helped me get caught up.

I could wish that I did not have Gaucher but that is what makes me special, me different from everyone else. With the help of the National Gaucher Foundation, I was able to attend their conference and even though I was the only kid there, I learned a lot about Gaucher and I learned about what could happen in the future. I am very lucky that I have Gaucher because there are other types of Lysosomal Disorders that do not have treatments but mine does so I am ok with that. While at this conference my Mom and Grandma Holly got to meet Dr. John Barranger. He is one of the people that worked on the treatment and he is going to help my regular doctor, Dr. Castellino, to make sure that my disease is being treated the best way possible.

I know that things may be scary and you may want to run and hide but I am here to answer any and all questions you may have. Please ask me questions, as many as you want - I’ll answer every one of them!

Victoria
"Life is Great, Be a RockStar"!